Osteopetrosis
Updates to Article Attributes
Osteopetrosis,or, or Albers-Schonberg disease,is a rare hereditary disorder that results from defective osteoclasts. Bones become sclerotic and thick, but their abnormal structure results in them being both weak and brittle.
There are two separate sub types of osteopetrosis:
Clinical presentation
Presentation in the majority of cases is with fracture because of the weakened bones. They are often transverse fractures with multiple areas of callus formation and normal healing.
Additionally, there is crowding of the marrow, so bone marrow function is affected resulting in myelophthisic anaemia and extramedullary haematopoiesis with splenomegaly. This may terminate in acute leukaemia.
Pathology
Both forms are congenital abnormalities with localised chromosomal defects. These result in defective osteoclasts and overgrowth of bone. The bones become thick and sclerotic, but their increased size does not improve their strength. Instead, their disordered architecture, results in weak and brittle bones. The osteoclasts lack carbonic anhydrase which may play a role in the disease.
Radiographic features
The features are dependant on the sub type of osteopetrosis and are detailed in the individual articles:
Treatment and prognosis
Treatment is with bone marrow transplant and resultant normalization of bone production. Prognosis for the AD adult subtype is good with a normal life expectancy. However, the AR infantile sub type can result in stillbirth or death in infancy: few patients live past middle-age.
Differential diagnosis
General imaging differential considerations include:
- heavy metal poisoning
- melorheostosis
- hypervitaminosis D
- pyknodysostosis
- fibrous dysplasia of skull or face
-<p><strong>Osteopetrosis</strong>,or <strong>Albers-Schonberg disease<em>,</em></strong><em> </em>is a rare hereditary disorder that results from defective <a href="/articles/osteoclasts">osteoclasts</a>. Bones become sclerotic and thick, but their abnormal structure results in them being both weak and brittle.</p><p>There are two separate sub types of osteopetrosis:</p><ul>- +<p><strong>Osteopetrosis</strong>, or <strong>Albers-Schonberg disease<em>,</em></strong><em> </em>is a rare hereditary disorder that results from defective <a href="/articles/osteoclasts">osteoclasts</a>. Bones become sclerotic and thick, but their abnormal structure results in them being both weak and brittle.</p><p>There are two separate sub types of osteopetrosis:</p><ul>
-</ul><h4>Treatment and prognosis</h4><p>Treatment is with bone marrow transplant and resultant normalization of bone production. Prognosis for the AD adult subtype is good with a normal life expectancy. However, the AR infantile sub type can result in stillbirth or death in infancy: few patients live past middle-age.</p><h4>Differential diagnosis</h4><p>General imaging differential considerations include</p><ul>- +</ul><h4>Treatment and prognosis</h4><p>Treatment is with bone marrow transplant and resultant normalization of bone production. Prognosis for the AD adult subtype is good with a normal life expectancy. However, the AR infantile sub type can result in stillbirth or death in infancy: few patients live past middle-age.</p><h4>Differential diagnosis</h4><p>General imaging differential considerations include:</p><ul>
Image 6 MRI (T2) ( update )
Image 12 CT (bone window) ( update )
Image 13 X-ray (Frontal) ( update )
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Image 15 MRI (T2) ( update )
Image 16 X-ray ( update )
Image 17 X-ray (Frontal) ( update )
Image 18 X-ray (Frontal) ( update )
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